Genetics: Mendelian Genetics (1)

Patterns of Inheritance

Outline 1. Key concepts 2. A few terms 3. Mendel’s Experimental Approach 4. Monohybrid 5. Dihybrid ______6. Extending Medelian Genetics 7. Mendilian Inheritance in Humans 8. Key Terms 9. Conclusions

Key Concepts:

1. Genes are units of information about inherited traits 2. Each gene has a particular location on a particular chromosome 3. During meiosis, paired genes are moved apart 4. Gregor Mendel found evidence for gene segregation

1 Key Concepts: 5.Homologous chromosomes are independently distributed and assorted during meiosis 6.Not all traits are clearly dominant or recessive but can be partially dominant or codominant

A Few Genetics Terms

A Few Genetics Terms

Gene – function unit codes some trait. Alleles - one of alternative forms of a particular gene True-breeding - produce offspring consistently identical to the parent with respect to certain defined characters after generations Homozygous – carrying two copies of the same allele of a given gene (= True breeding) Heterozygous - carrying two different alleles of a given gene

2 A Few Genetics Terms

Dominant - allele that expresses itself Recessive - an allele that is masked Genotype - an organism’s allelic (genetic) makeup Phenotype - the outward appearance or expression of an organism Generations P - parental generation

F1 - offspring of the parental generation

F2 - offspring of the F1

Gregor Mendel (1822 -1884)

Father of Genetics – Gregor Mendel

Mendel was an Austrian monk with an interest in botany. He attended the University of Vienna for 2 years, where he studied botany and mathematics, among other subjects. He did some wonderful experiments, which were the foundation for the modern science of genetics.

Mendel ’s Experimental Approach Mendel chose to study peas because: • They were small, easy, and inexpensive • They had a short generation time • Many varieties of pure lines available which were “true-breeding” • He could obtain large numbers for mathematical analysis of the data

3 Mendel ’s Experimental Approach

Mendel studied seven traits, one at a time

Mendel ’s Monohybrid Cross

Mendel ’s Monohybrid Cross

4 Mendel ’s Monohybrid Cross

Mendel ’s Monohybrid Cross P: Purple flowered X White flowered F1: All purple flowered Dominant form appears in F1 Recessive form does not appear in F1 F1: Purple X Purple F2 : ¾ purple flowered ; ¼ white flowered If: P = purple flowered and p = white flowered PP- Dominant homozygous; pp-Recessive homozygous; Pp- heterozygous P: PP X pp F1: Pp, then Pp X Pp F2: ¼ PP, 2/4 Pp, ¼ pp

Mendel ’s Monohybrid Cross

[Punnett Square] = a way to predict the genotypes and phenotypes of offspring in specific crosses F2 generation: ¼ purple flowered – Homozygous (PP) 2/4 purple flowered – Heterozygous (Pp) ¼ white flowered – Homozygous (pp) phenotypic ratio: purple flowered : white flowered = 3:1 genotypic ratio: PP:Pp:pp = 1:2:1

5 Probability and Punnett Squares

A possibility of gene combinations of next generation from TEST CROSSES

Mendel ’s Monohybrid Cross

Dominant-to-Recessive ratio in F 2 plants is 3:1

Results from Mendel ’s Monohybrid Cross Pea Plant

6 Mendel ’s First Law

The results from Mendel's monohybrid crosses became the basis of a theory (Law) of segregation , which we state here in modern terms: Each gamete receives only one of each parent’s pair of genes for each trait. When a sperm fertilizes an egg, the resulting offspring receives one allele from the father and one from the mother

Some people can roll their tongues, other cannot. Some people have attached earlobes, others have free earlobes. The genes that influence these traits are inherited independently. As a result, some people who can roll their tongues also have attached earlobes, while other tongue rollers have detached earlobes. Independent assortment was first described in the mid- nineteenth century by Gregor Mendel, who was studying inherited traits in garden pea plants. Mendel noted that traits such as flower color and plant height seemed to be inherited independently. To better understand this variation, Mendel carried out a series of dihybrid crosses such as that shown on the following page.

Mendel ’s Dihybrid Cross P: Smooth (S) & Yellow seeded (Y) wrinkled (s ) & green seeded (y) (both true-breeding) P: SSYY X ssyy F1: All Smooth & Yellow seeded F1: SsYy [Punnett Square] F2 expected genotypic ratio: 1/16 SSYY, 2/16 SSYy, 2/16SsYY, 4/16 SsYy 1/16 SSyy, 2/16 Ssyy 1/16 ssYY, 2/16 ssYy 1/16 ssyy

7 Mendel ’s Dihybrid Cross

F2 phenotypic ratio : 9/16 (S-Y-) Smooth & Yellow seeded 3/16 (S-yy) Smooth & green seeded 3/16 (ssY-) wrinkled & Yellow seeded 1/16 (ssyy) wrinkled & green seeded Mendel’s results (total plants 556): S&Y=315, S&g=108,w&Y=101, w&g=32 556 x 9/16 = 312.8; 556 x 3/16 = 104.2; 556 x 1/16 = 34.8

Mendel ’s Dihybrid Cross

Mendel ’s Dihybrid Cross

8 Mendel ’s Dihybrid Cross

Mendel ’s Dihybrid Cross

Phenotypic ratio in F 2 plants is 9:3:3:1

Mendel ’s Second Law Mendel’s dihybrid crosses all showed the same phenotypic ratio of about 9:3:3:1. On the basis of such observations, Mendel formulated a theory (law) of Independent assortment : The alleles for one trait may distributed to the gametes independently of the alleles for the other traits.

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